Phenotype #0000310147

Individual ID	00418850
Associated disease	JBTS
Phenotype details	developmental delay, possible seizures; no breathing abnormalities during the perinatal period; ophthalmological examination: fixation central, steady, maintained in both eyes; orthotropic, with full ductions in response to vestibular stimulation induced by forced head rotation; unable to initiate horizontal saccades and performed horizontal head thrusts to change fixation, consistent with congenital ocular motor apraxia; external, slit-lamp and funduscopic examination: normal, with no coloboma or signs of a retinal dystrophy; magnetic resonance imaging of the brain with gadolinium: initially interpreted as normal; further review disclosed mild dysplasia of the superior cerebellar vermis and hypertrophy of the superior cerebellar peduncles consistent with a ""molar tooth"" deformity; 5y: best-corrected visual acuity: 20/20 in both eyes; no change in the remainder of ophthalmologic findings; remained delayed in her developmental milestones but participated in physical and occupational the
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome with congenital ocular motor apraxia
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-09 19:50:11 +02:00 (CEST)
Date last edited	N/A